Test Menu Category: Gastrointestinal Cancer

Case Studies

1. Improved Molecular Classification of Serrated Lesions of the Colon by BRAF V600E Pathology Top Pick
2. Revised Guidelines for the Clinical Management of Lynch Syndrome Pathology Top Pick
3. Gastroesophageal Junction Adenocarcinoma Case Study
4. Primary Colon Adenocarcinoma Case Study

Personalized Medicine

Identifying patients who will benefit from certain treatment strategies is vital to ensuring better clinical outcomes in colorectal and gastric cancer.

The presence of a KRAS mutation is highly predictive of a patient's non-responsiveness to the EGFR inhibitors Erbitux® (cetuximab) or Vetibix™ (panitumumab).
The incidence of KRAS gene mutation in colorectal cancer (CRC) is approximately 35-45%. BRAF gene mutations also account for another 8-10% of patients failing to respond to anti-EGFR treatment and confirmed in multiple studies.

BRAF mutation testing is also utilized to assist with the differentiation of microsatellite instability high (MSI-H) hereditary non-polyposis colon cancer (HNPCC) from sporadic MSI-H CRC. Microsatellite instability (MSI) is commonly detected in ~90% of patients with HNPCC and 15% of sporadic CRC. It is generally recommended that patients at increased risk for Lynch syndrome undergo pre-screening with microsatellite instability analysis by immunohistochemistry.

HER2 gene amplification and/ or HER2 protein over-expression have been demonstrated in colon, bladder, ovarian, endometrial, lung, cervical, head and neck, esophageal, and gastric carcinomas, which represent non-mammary candidate targets for Herceptin therapy. The need for Herceptin therapy is augmented in aggressive, high stage cancers for which highly effective drugs are not available. The recent Trastuzumab for Gastric Cancer (or so-called ToGA) clinical trial established benefit from Herceptin (trastuzumab) in combination with chemotherapy as first-line therapy for HER2 positive gastric or gastroesophageal junction carcinomas.

Gastrointestinal Cancer Tests

BRAF Mutation Analysis by Next Generation Sequencing

c-kit protein by IHC

Colon Cancer Panel by Next Generation Sequencing

EGFR amplification (7p11.2) by FISH*

HER2 Gastric by IHC

HER2/neu gastric cancer by FISH

KIT (D816V) Mutation*

KRAS Mutation Analysis by Next Generation Sequencing

Microsatellite Instability Marker Profile by Immunohistochemistry (IHC)

p16 by IHC